Linked Data
dbSNP Id:
rs1200225119
gnomAD v2:
4-149363600-G-C
gnomAD v3:
4-148442448-G-C
gnomAD v4:
4-148442448-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148442448G>C , CM000666.2:g.148442448G>C | GRCh38 |
| NC_000004.11:g.149363600G>C , CM000666.1:g.149363600G>C | GRCh37 |
| NC_000004.10:g.149583050G>C | NCBI36 |
| NG_013350.1:g.5073C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344721.8:c.-3+2078C>G | ENSP00000341390.4:n.-3+2078C>G | |
| ENST00000358102.7:c.-291C>G | ENSP00000350815.3:n.-291C>G | |
| ENST00000625323.2:c.-291C>G | ENSP00000486719.1:n.-291C>G | |
| NM_000901.4:c.-291C>G | NP_000892.2:n.-291C>G | |
| NM_001166104.1:c.-291C>G | NP_001159576.1:n.-291C>G | |
| XM_011531975.1:c.-291C>G | XP_011530277.1:n.-291C>G | |
| XM_011531976.1:c.-3+2078C>G | XP_011530278.1:n.-3+2078C>G | |
| XM_011531977.1:c.-3+2752C>G | XP_011530279.1:n.-3+2752C>G | |
| XM_011531978.1:c.-291C>G | XP_011530280.1:n.-291C>G | |
| NM_001354819.1:c.-3+2078C>G | NP_001341748.1:n.-3+2078C>G | |
| NR_148974.1:n.73C>G | ||
| XM_011531978.2:c.-291C>G | XP_011530280.1:n.-291C>G |